Genetic Counseling

For families living with Duchenne or Becker muscular dystrophy, genetic counseling can offer several benefits. A genetic counselor can explain the cause[s] of muscular dystrophy, the typical symptoms and course of the disorder, and can discuss and facilitate diagnostic and genetic testing options. In addition to focusing on the child with the disorder, the genetic counselor also can explore family issues.
 
In considering genetic testing, genetic counselors work with families and their healthcare providers to determine the best testing strategy. This will vary for different families, depending on their specific testing goals and what testing has already been done, as well as insurance coverage/financial issues. After testing, genetic counselors can help families and healthcare professionals understand the meaning of the results, and can discuss options for follow-up testing, if necessary.
 
If you have a child with Duchenne and would like to receive genetic counseling, you can ask your child’s pediatrician or neurologist for a referral.  In most cases, you and your child will be seen by a physician geneticist and a genetic counselor.  Sometimes genetic counseling is available through MDA (Muscular Dystrophy Association) clinics.
 
If you are female and have questions or concerns about your risk of being a Glossary Link carrier, or of having children with muscular dystrophy, ask your primary care provider, or your gynecologist, for a referral to genetic counseling.
 
DuchenneConnect can help locate genetic counselors, if referrals are not available from your current healthcare providers.
 
Genetic counseling can offer many benefits for families living with Duchenne or Becker muscular dystrophy, including:
  • Education about the disorder
  • Coordination and explanation of genetic testing
  • Emotional counseling

Education

A genetic counselor can explain the cause of muscular dystrophy, the typical symptoms and course of the disorder, the chance for the disorder to happen again in the family, and family planning options. Genetic counselors can help families identify appropriate research studies to pursue. They can also help families understand and deal with those instances when a child does not qualify for a desired study.

Genetic testing

Genetic counselors can discuss diagnostic genetic testing and carrier testing options, order or facilitate the genetic testing, and discuss the test results and any necessary follow-up testing. In considering genetic testing, genetic counselors work with families and their healthcare providers to determine the best testing strategy. This will vary for different families, depending on their specific testing goals and what testing has already been done, as well as insurance coverage/financial issues.

Emotional counseling

In addition to focusing on the child with the disorder, the genetic counselor also can explore emotional and family issues. An important role of the genetic counselor is to help families anticipate, identify, and start to manage the strong emotions that often come with having a child with Duchenne or Becker muscular dystrophy, and with having a family history of Duchenne or Becker muscular dystrophy. The diagnostic process itself is often emotionally difficult for families. The genetic counselor can provide information on what sort of things to expect, offer support to the family during this time, and provide referrals for longer-term counseling.
Getting a referral for genetic counseling
 
If you have a child with Duchenne or Becker muscular dystrophy and would like to receive genetic counseling, you can ask your child’s pediatrician or neurologist for a referral. In most cases, you and your child will be seen by a physician geneticist and a genetic counselor.
 
Sometimes genetic counseling is available through MDA (Muscular Dystrophy Association) clinics.
If you are female and have questions or concerns about your chance of being a carrier, or of having children with muscular dystrophy, ask your primary care provider or your gynecologist for a referral to genetic counseling specialist.
DuchenneConnect can help locate genetic counselors if referrals are not available from your current healthcare providers. To contact the Connect Coordinator, visit the DuchenneConnect registry to create a profile, and then email or call with questions.

Learn more about genetic counseling

The National Society of Genetic Counselors defines genetic counseling as the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. Genetic counselors help families do this through:
  • interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • education about inheritance, testing, management, prevention, resources, and research
  • counseling to promote informed choices and adaptation to the individuals risk or condition
Genetic counseling is usually done by a healthcare provider who has been specially trained to provide this service. Sometimes this person is a doctor, and sometimes he/she has master’s level training in genetic counseling. In some cases, genetic counseling may be provided by your own pediatrician, family doctor, or neurologist; usually, however, your doctor will refer you to an outside specialist.